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Esra Er Selected Research

5,10-methenyltetrahydrofolate synthetase

10/2022A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities.

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Esra Er Research Topics

Disease

1Macrocytic Anemia
10/2022
1Muscle Hypotonia (Hypotonia)
10/2022
16-pyruvoyl-tetrahydropterin synthase deficiency
05/2021
1B BH4-Deficient Hyperphenylalaninemia
05/2021
1Phenylketonurias (Phenylketonuria)
05/2021
1Metabolic Diseases (Metabolic Disease)
03/2021
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
03/2021
1Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
08/2018

Drug/Important Bio-Agent (IBA)

1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
10/2022
1Folic Acid (Vitamin M)FDA LinkGeneric
10/2022
15,10-methenyltetrahydrofolateIBA
10/2022
1HomocysteineIBA
10/2022
15,10-methenyltetrahydrofolate synthetaseIBA
10/2022
1sapropterin (tetrahydrobiopterin)FDA Link
05/2021
1sepiapterin reductaseIBA
05/2021
16-pyruvoyltetrahydropterin synthase (PTPS)IBA
05/2021
1GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA
05/2021
1CeroidIBA
03/2021
1LipofuscinIBA
03/2021
1Biotin (Vitamin H)FDA Link
08/2018